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mRNAs expression and methylation pattern of RARB, NR4A1 and HSD3B2 genes in human adrenal tissues (HAT) and in pediatric virilizing adrenocortical tumors (VAT) were analyzed.
Sequencing analyses indicate homozygous p.W355R mutation at exon 4 of the 3 beta-hydroxysteroid dehydrogenase type II (HSD3beta2) gene in both siblings.
the first HSD3B2 gene mutation in the Italian population and analyzed its effect in the context of the 3beta-HSD2 (show HSD11B2 Proteins) structure and function.
The steroidogenic enzymes cytochrome P450 cholesterol side-chain cleavage enzyme (show CYP11A1 Proteins) (P450scc (show CYP11A1 Proteins)), cytochrome P450 17 alpha (show CYP19A1 Proteins)-hydroxylase (P450c17 (show CYP17A1 Proteins)) and 3beta-hydroxysteroid dehydrogenase (3beta-HSD (show CHST3 Proteins)) showed immunoreactivity in 9/20 (45.0 %), 15/20 (75.0 %) and 13/20 (65.0 %), respectively, of ovarian-type stroma from pancreatic mucinous cystic neoplasm cases.
HSD3B1 (show HSD3B1 Proteins) is involved in aldosterone production, despite its lower levels of expression compared with HSD3B2, and also possibly associated with KCNJ5 (show KCNJ5 Proteins) mutation in aldosterone-producing adenoma.
Patients with HSD3B2 deficiency and 21-hydroxylase deficiency suffer similar morbid complications from under- and overtreatment, but HSD3B2 deficiency is associated with a distinctive pattern of sex steroid dysmetabolism.
both area and ratio of 3betaHSD (show HSD3B1 Proteins) and CYB5A (show CYB5A Proteins) double positive cells, which could represent the hybrid cells of zona fasciculate and zona reticularis, are correlated with adrenal development and could influence age-related serum androstenedione levels.
Results indicate that orexin-A significantly enhanced the expression of 3beta-hydroxysteroid dehydrogenase (3beta-HSD (show CHST3 Proteins)) and the production of cortisol, and increased the phosphorylation of AKT (show AKT1 Proteins) protein in the NCI-H295R adrenocortical cells.
the CYP11A1 (show CYP11A1 Proteins), CYP17A1 (show CYP17A1 Proteins), HSD3B2, SRD5A2 (show SRD5A2 Proteins), and HSD17B6 (show HSD17B6 Proteins) mRNA levels in metastases were significantly lower.
The cause of adrenocortical insufficiency in the studied family appears to be two novel homozygous mutations in the 3beta-HSD (show CHST3 Proteins) gene.
molecular chaperone (show HSP90AA1 Proteins)-assisted folding of 3-beta hydroxysteroid dehydrogenase-2 is a physiological requirement
The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene.
3 beta-HSD type II
, 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II
, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II
, 3-beta-HSD II
, 3-beta-HSD adrenal and gonadal type
, 3-beta-hydroxy-5-ene steroid dehydrogenase
, 3-beta-hydroxy-Delta(5)-steroid dehydrogenase
, delta 5-delta 4-isomerase type II
, progesterone reductase
, short chain dehydrogenase/reductase family 11E, member 2
, 3 beta-hydroxysteroid dehydrogenase 6
, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 4
, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type IV
, 3-beta-HSD IV
, Hydroxy-delta-5-steroid dehydrogenase 3 beta- and steroid delta-isomerase
, hydroxysteroid dehydrogenase-6 delta<5>-3-beta
, 3 beta-hydroxysteroid dehydrogenase 2
, hydroxysteroid dehydrogenase-2, delta<5>-3-beta
, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase
, 3-beta-hydroxysteroid dehydrogenase
, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
, 3 beta-hydroxysteroid dehydrogenase